Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.
Spangsberg Petersen US et al.
Molecular Therapy. Nucleic Acids, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
Prevalence of propionic acidemia in China.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
[Phenotypes and genotypes of 78 patients with propionic acidemia].
Ma X et al.
Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2022
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.
Stanescu S et al.
Amino Acids, 2022
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.
Liu Y et al.
Orphanet Journal of Rare Diseases, 2022
Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.
Li Y et al.
Bmc Medical Genomics, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Tajima G et al.
International Journal of Neonatal Screening, 2021
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.
Stanescu S et al.
Orphanet Journal of Rare Diseases, 2021
Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.
Chen Y et al.
Medicine, 2021
Long-term follow-up with filter paper samples in patients with propionic acidemia.
Stanescu S et al.
Jimd Reports, 2021
Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.
Dai M et al.
Orphanet Journal of Rare Diseases, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Recurrent PDGFRB mutations in unicentric Castleman disease.
Li Z et al.
Leukemia, 2019
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.
Chapman KA et al.
Molecular Genetics and Metabolism Reports, 2018
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.
Wang Y et al.
Frontiers in Pediatrics, 2018
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.
Laemmle A et al.
European Journal of Pediatrics, 2014
Mutation analysis in 54 propionic acidemia patients.
Kraus JP et al.
Journal of Inherited Metabolic Disease, 2012
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Pérez B et al.
Journal of Inherited Metabolic Disease, 2010
Unusual presentation of propionic acidaemia as isolated cardiomyopathy.
Lee TM et al.
Journal of Inherited Metabolic Disease, 2009
Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli.
Jiang H et al.
The Journal of Biological Chemistry, 2005
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Rodríguez-Pombo P et al.
Biochimica Et Biophysica Acta, 2005
Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes.
Clavero S et al.
Human Genetics, 2004
Propionic acidemia: unusual course with late onset and fatal outcome.
Lücke T et al.
Metabolism: Clinical and Experimental, 2004
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X et al.
Molecular Genetics and Metabolism, 2004
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Pérez-Cerdá C et al.
Biochimica Et Biophysica Acta, 2003
Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.
Hall PR et al.
The Embo Journal, 2003
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Pérez B et al.
Molecular Genetics and Metabolism, 2003
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Chloupkova M et al.
Human Mutation, 2002
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C et al.
European Journal of Human Genetics : Ejhg, 2000
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Ugarte M et al.
Human Mutation, 1999
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Rodríguez-Pombo P et al.
American Journal of Human Genetics, 1998
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Pérez-Cerdá C et al.
European Journal of Pediatrics, 1998
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Loyer M et al.
Human Molecular Genetics, 1995
Mutations participating in interallelic complementation in propionic acidemia.
Gravel RA et al.
American Journal of Human Genetics, 1994
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Gravel RA et al.
American Journal of Human Genetics, 1977
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Desviat LR et al.
Molecular Genetics and Metabolism, 0